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A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.
Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E. Gamage TH, et al. Among authors: reseland je. Sci Signal. 2023 Feb 7;16(771):eadd0509. doi: 10.1126/scisignal.add0509. Epub 2023 Feb 7. Sci Signal. 2023. PMID: 36749824
146 results